| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bicuspid cardiac valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Quadricuspid cardiac valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Monocuspid cardiac valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Single coronary artery |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Abnormal number of cardiac valve cusps (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Oligomeganephronic hypoplasia of kidney |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Uterus unicornis |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Anodontia of permanent dentition |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Familial hypodontia |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Hypodontia and nail dysgenesis |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bicuspid doming of aortic cusp |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Unicuspid pulmonary valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Bicuspid pulmonary valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Quadricuspid pulmonary valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Unicuspid aortic valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Quadricuspid aortic valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Abnormal number of aortic valve cusps |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Abnormal number of pulmonary valve cusps |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital anomaly in number of teeth (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Single coronary artery dividing into right coronary artery and left coronary artery (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Anodontia |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Multiple renal arteries |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Anodontia of primary dentition |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
3 |
| A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Epidermolysis bullosa simplex with hypodontia |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Bicuspid aortic valve |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| Unicommissural unicuspid aortic valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Unicommissural unicuspid pulmonary valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Acommissural unicuspid pulmonary valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Acommissural unicuspid aortic valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Anterior-posterior orientation of bicuspid aortic valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Right-left orientation of bicuspid aortic valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Anterior-posterior orientation of bicuspid pulmonary valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Right-left orientation of bicuspid pulmonary valve (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare congenital non-syndromic heart malformation with characteristics of more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Oligodontia is a rare developmental dental anomaly with clinical features that include six or more missing teeth, lack of development of maxillary and mandibular alveolar bone height and reduced lower facial height. Variation in tooth morphology is also observed along with problems in tooth development, eruption and exfoliation. Possible causes of oligodontia include viral disease during pregnancy, genetic predisposition, metabolic imbalances, developmental abnormalities and environmental factors. Autosomal dominant mutations in PAX9 and MSX1 have been found in patients with molar non-syndromic oligodontia. |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Bicuspid aortic valve-associated aortopathy (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| X-linked hypodontia (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| X-linked oligodontia (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Congenital absence of one tooth (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Partial congenital absence of teeth |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Four vessels in umbilical cord (disorder) |
Associated morphology |
True |
Abnormal number (morphologic abnormality) |
Inferred relationship |
Some |
1 |
FHIR